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Protein

Nesprin-2

Gene

SYNE2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. Component of SUN-protein-containing multivariate complexes also called LINC complexes which link the nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal filaments. Involved in the maintenance of nuclear organization and structural integrity. Connects nuclei to the cytoskeleton by interacting with the nuclear envelope and with F-actin in the cytoplasm. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. Required for centrosome migration to the apical cell surface during early ciliogenesis.4 Publications

GO - Molecular functioni

GO - Biological processi

  • centrosome localization Source: UniProtKB
  • cytoskeletal anchoring at nuclear membrane Source: UniProtKB
  • establishment or maintenance of cell polarity Source: Ensembl
  • fibroblast migration Source: Ensembl
  • nuclear envelope organization Source: Ensembl
  • nuclear migration Source: UniProtKB
  • nuclear migration along microfilament Source: UniProtKB
  • positive regulation of cell migration Source: UniProtKB
  • protein localization to nucleus Source: Ensembl
Complete GO annotation...

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

ReactomeiR-HSA-1221632. Meiotic synapsis.

Names & Taxonomyi

Protein namesi
Recommended name:
Nesprin-2
Alternative name(s):
Nuclear envelope spectrin repeat protein 2
Nucleus and actin connecting element protein
Short name:
Protein NUANCE
Synaptic nuclear envelope protein 2
Short name:
Syne-2
Gene namesi
Name:SYNE2
Synonyms:KIAA1011, NUA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:17084. SYNE2.

Subcellular locationi

Isoform 8 :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 6834CytoplasmicPROSITE-ProRule annotationAdd BLAST6834
Transmembranei6835 – 6855Helical; Anchor for type IV membrane proteinPROSITE-ProRule annotationAdd BLAST21
Topological domaini6856 – 6885Perinuclear spacePROSITE-ProRule annotationAdd BLAST30

GO - Cellular componenti

  • aggresome Source: HPA
  • cytoplasm Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • filopodium membrane Source: UniProtKB
  • focal adhesion Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • intermediate filament cytoskeleton Source: HPA
  • lamellipodium membrane Source: UniProtKB
  • LINC complex Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • nuclear envelope Source: UniProtKB
  • nuclear lumen Source: UniProtKB
  • nuclear membrane Source: HPA
  • nuclear outer membrane Source: UniProtKB-SubCell
  • nucleoplasm Source: UniProtKB-SubCell
  • nucleus Source: CACAO
  • sarcoplasmic reticulum Source: UniProtKB
  • sarcoplasmic reticulum membrane Source: UniProtKB-SubCell
  • Z disc Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Mitochondrion, Nucleus, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Emery-Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
See also OMIM:612999
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0629776211T → M in EDMD5. 1 PublicationCorresponds to variant rs36215895dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Emery-Dreifuss muscular dystrophy

Organism-specific databases

DisGeNETi23224.
MalaCardsiSYNE2.
MIMi612999. phenotype.
OpenTargetsiENSG00000054654.
Orphaneti98853. Autosomal dominant Emery-Dreifuss muscular dystrophy.
PharmGKBiPA128394613.

Polymorphism and mutation databases

BioMutaiSYNE2.
DMDMi116242809.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001635921 – 6885Nesprin-2Add BLAST6885

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei841PhosphoserineCombined sources1
Modified residuei955N6-acetyllysineCombined sources1
Modified residuei2781PhosphoserineCombined sources1
Modified residuei4108PhosphoserineCombined sources1
Modified residuei5785PhosphoserineCombined sources1
Modified residuei6361PhosphoserineCombined sources1
Modified residuei6384PhosphoserineBy similarity1
Modified residuei6411PhosphoserineBy similarity1
Modified residuei6428PhosphoserineBy similarity1
Modified residuei6429PhosphoserineBy similarity1
Modified residuei6430PhosphoserineBy similarity1
Modified residuei6459PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8WXH0.
MaxQBiQ8WXH0.
PaxDbiQ8WXH0.
PeptideAtlasiQ8WXH0.
PRIDEiQ8WXH0.

PTM databases

iPTMnetiQ8WXH0.
PhosphoSitePlusiQ8WXH0.
SwissPalmiQ8WXH0.

Expressioni

Tissue specificityi

Widely expressed, with higher level in kidney, adult and fetal liver, stomach and placenta. Weakly expressed in skeletal muscle and brain. Isoform 5 is highly expressed in pancreas, skeletal muscle and heart.1 Publication

Gene expression databases

BgeeiENSG00000054654.
ExpressionAtlasiQ8WXH0. baseline and differential.
GenevisibleiQ8WXH0. HS.

Organism-specific databases

HPAiHPA003435.
HPA050204.

Interactioni

Subunit structurei

Core component of the LINC complex which is composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN domain-containing proteins interact with A-type lamins of the nuclear lamina, while at the other end of the complex, nesprins interact with unique cytoskeletal components. Interacts with F-actin via its N-terminal domain. Interacts with EMD, LMNA and MKS3. Interacts with TMEM67 (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
APPL1Q9UKG13EBI-2372294,EBI-741243
EMDP504025EBI-10760388,EBI-489887
SUN1O949012EBI-6170976,EBI-2796904
Sun1Q9D6662EBI-6838657,EBI-6752574From a different organism.
SUN2Q9UH997EBI-2372294,EBI-1044964

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116830. 39 interactors.
DIPiDIP-53409N.
IntActiQ8WXH0. 28 interactors.
MINTiMINT-4136337.
STRINGi9606.ENSP00000350719.

Structurei

Secondary structure

16885
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni6867 – 6870Combined sources4
Beta strandi6871 – 6873Combined sources3
Beta strandi6875 – 6881Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4DXSX-ray2.71B6857-6885[»]
4FI9X-ray3.05B6872-6885[»]
ProteinModelPortaliQ8WXH0.
SMRiQ8WXH0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 286Actin-bindingAdd BLAST286
Domaini31 – 136CH 1PROSITE-ProRule annotationAdd BLAST106
Domaini181 – 286CH 2PROSITE-ProRule annotationAdd BLAST106
Repeati297 – 378Spectrin 1Add BLAST82
Repeati379 – 472Spectrin 2Add BLAST94
Repeati473 – 575Spectrin 3Add BLAST103
Repeati576 – 680Spectrin 4Add BLAST105
Repeati735 – 838Spectrin 5Add BLAST104
Repeati839 – 932Spectrin 6Add BLAST94
Repeati933 – 1034Spectrin 7Add BLAST102
Repeati1121 – 1212Spectrin 8Add BLAST92
Repeati1263 – 1323Spectrin 9Add BLAST61
Repeati1324 – 1419Spectrin 10Add BLAST96
Repeati1420 – 1524Spectrin 11Add BLAST105
Repeati1525 – 1636Spectrin 12Add BLAST112
Repeati1637 – 1738Spectrin 13Add BLAST102
Repeati1739 – 1830Spectrin 14Add BLAST92
Repeati1831 – 1938Spectrin 15Add BLAST108
Repeati1939 – 2036Spectrin 16Add BLAST98
Repeati2037 – 2132Spectrin 17Add BLAST96
Repeati2133 – 2243Spectrin 18Add BLAST111
Repeati2244 – 2360Spectrin 19Add BLAST117
Repeati2432 – 2513Spectrin 20Add BLAST82
Repeati2514 – 2620Spectrin 21Add BLAST107
Repeati2621 – 2717Spectrin 22Add BLAST97
Repeati2718 – 2831Spectrin 23Add BLAST114
Repeati2832 – 2933Spectrin 24Add BLAST102
Repeati2934 – 3036Spectrin 25Add BLAST103
Repeati3037 – 3142Spectrin 26Add BLAST106
Repeati3143 – 3248Spectrin 27Add BLAST106
Repeati3249 – 3352Spectrin 28Add BLAST104
Repeati3353 – 3465Spectrin 29Add BLAST113
Repeati3466 – 3573Spectrin 30Add BLAST108
Repeati3574 – 3679Spectrin 31Add BLAST106
Repeati3680 – 3777Spectrin 32Add BLAST98
Repeati3778 – 3880Spectrin 33Add BLAST103
Repeati3881 – 3986Spectrin 34Add BLAST106
Repeati3987 – 4086Spectrin 35Add BLAST100
Repeati4229 – 4348Spectrin 36Add BLAST120
Repeati4520 – 4639Spectrin 37Add BLAST120
Repeati4640 – 4727Spectrin 38Add BLAST88
Repeati4728 – 4837Spectrin 39Add BLAST110
Repeati4838 – 4943Spectrin 40Add BLAST106
Repeati4944 – 5051Spectrin 41Add BLAST108
Repeati5052 – 5164Spectrin 42Add BLAST113
Repeati5165 – 5266Spectrin 43Add BLAST102
Repeati5267 – 5391Spectrin 44Add BLAST125
Repeati5392 – 5487Spectrin 45Add BLAST96
Repeati5488 – 5589Spectrin 46Add BLAST102
Repeati5590 – 5704Spectrin 47Add BLAST115
Repeati5705 – 5799Spectrin 48Add BLAST95
Repeati5800 – 5907Spectrin 49Add BLAST108
Repeati5908 – 6017Spectrin 50Add BLAST110
Repeati6018 – 6135Spectrin 51Add BLAST118
Repeati6136 – 6243Spectrin 52Add BLAST108
Repeati6244 – 6355Spectrin 53Add BLAST112
Repeati6461 – 6549Spectrin 54Add BLAST89
Repeati6550 – 6665Spectrin 55Add BLAST116
Repeati6666 – 6782Spectrin 56Add BLAST117
Domaini6826 – 6885KASHPROSITE-ProRule annotationAdd BLAST60

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili297 – 6782Sequence analysisAdd BLAST6486

Domaini

The KASH domain mediates the nuclear envelope targeting.1 Publication

Sequence similaritiesi

Belongs to the nesprin family.Curated
Contains 1 actin-binding domain.Curated
Contains 2 CH (calponin-homology) domains.PROSITE-ProRule annotation
Contains 1 KASH domain.PROSITE-ProRule annotation
Contains 56 spectrin repeats.1 Publication

Keywords - Domaini

Coiled coil, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0516. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000118813.
InParanoidiQ8WXH0.
KOiK19346.
OMAiMMLQEKY.
OrthoDBiEOG091G0007.
PhylomeDBiQ8WXH0.
TreeFamiTF329280.

Family and domain databases

CDDicd00014. CH. 2 hits.
Gene3Di1.10.418.10. 2 hits.
InterProiIPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR012315. KASH.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
IPR030266. SYNE2.
[Graphical view]
PANTHERiPTHR11915:SF317. PTHR11915:SF317. 10 hits.
PfamiPF00307. CH. 2 hits.
PF10541. KASH. 1 hit.
PF00435. Spectrin. 3 hits.
[Graphical view]
SMARTiSM00033. CH. 2 hits.
SM01249. KASH. 1 hit.
SM00150. SPEC. 18 hits.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 2 hits.
PROSITEiPS00019. ACTININ_1. 1 hit.
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 2 hits.
PS51049. KASH. 1 hit.
[Graphical view]

Sequences (13)i

Sequence statusi: Complete.

This entry describes 13 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8WXH0-1) [UniParc]FASTAAdd to basket
Also known as: Nesprin-2 Giant, NUANCE

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASSPELPTE DEQGSWGIDD LHISLQAEQE DTQKKAFTCW INSQLARHTS
60 70 80 90 100
PSVISDLFTD IKKGHVLLDL LEVLSGQQLP RDKGSNTFQC RINIEHALTF
110 120 130 140 150
LRNRSIKLIN IHVTDIIDGN PSIILGLIWT IILHFHIEKL AQTLSCNYNQ
160 170 180 190 200
PSLDDVSVVD SSPASSPPAK KCSKVQARWQ MSARKALLLW AQEQCATYES
210 220 230 240 250
VNVTDFKSSW RNGMAFLAII HALRPDLIDM KSVKHRSNKD NLREAFRIAE
260 270 280 290 300
QELKIPRLLE PEDVDVVDPD EKSIMTYVAQ FLQYSKDAPG TGEEAQGKVK
310 320 330 340 350
DAMGWLTLQK EKLQKLLKDS ENDTYFKKYN SLLSFMESFN EEKKSFLDVL
360 370 380 390 400
SIKRDLDELD KDHLQLREAW DGLDHQINAW KIKLNYALPP PLHQTEAWLQ
410 420 430 440 450
EVEELMDEDL SASQDHSQAV TLIQEKMTLF KSLMDRFEHH SNILLTFENK
460 470 480 490 500
DENHLPLVPP NKLEEMKRRI NNILEKKFIL LLEFHYYKCL VLGLVDEVKS
510 520 530 540 550
KLDIWNIKYG SRESVELLLE DWHKFIEEKE FLARLDTSFQ KCGEIYKNLA
560 570 580 590 600
GECQNINKQY MMVKSDVCMY RKNIYNVKST LQKVLACWAT YVENLRLLRA
610 620 630 640 650
CFEETKKEEI KEVPFETLAQ WNLEHATLNE AGNFLVEVSN DVVGSSISKE
660 670 680 690 700
LRRLNKRWRK LVSKTQLEMN LPLMIKKQDQ PTFDNSGNIL SKEEKATVEF
710 720 730 740 750
STDMSVELPE NYNQNIKAGE KHEKENEEFT GQLKVAKDVE KLIGQVEIWE
760 770 780 790 800
AEAKSVLDQD DVDTSMEESL KHLIAKGSMF DELMARSEDM LQMDIQNISS
810 820 830 840 850
QESFQHVLTT GLQAKIQEAK EKVQINVVKL IAALKNLTDV SPDLDIRLKM
860 870 880 890 900
EESQKELESY MMRAQQLLGQ RESPGELISK HKEALIISNT KSLAKYLKAV
910 920 930 940 950
EELKNNVTED IKMSLEEKSR DVCAKWESLH HELSLYVQQL KIDIEKGKLS
960 970 980 990 1000
DNILKLEKQI NKEKKLIRRG RTKGLIKEHE ACFSEEGCLY QLNHHMEVLR
1010 1020 1030 1040 1050
ELCEELPSQK SQQEVKRLLK DYEQKIERLL KCASEIHMTL QPTAGGTSKN
1060 1070 1080 1090 1100
EGTITTSENR GGDPHSEAPF AKSDNQPSTE KAMEPTMKFS LASVLRPLQE
1110 1120 1130 1140 1150
ESIMEKDYSA SINSLLERYD TYRDILEHHL QNNKFRITSD FSSEEDRSSS
1160 1170 1180 1190 1200
CLQAKLTDLQ VIKNETDARW KEFEIISLKL ENHVNDIKKP FVIKERDTLK
1210 1220 1230 1240 1250
ERERELQMTL NTRMESLETA LRLVLPVEKA SLLLCGSDLP LHKMAIQGFH
1260 1270 1280 1290 1300
LIDADRIYQH LRNIQDSIAK QIEICNRLEE PGNFVLKELH PFDLHAMQNI
1310 1320 1330 1340 1350
ILKYKTQFEG MNHRVQRSED TLKALEDFLA SLRTAKLSAE PVTDLSASDT
1360 1370 1380 1390 1400
QVAQENTLTV KNKEGEIHLM KDKAKHLDKC LKMLDMSFKD AERGDDTSCE
1410 1420 1430 1440 1450
NLLDAFSIKL SETHGYGVQE EFTEENKLLE ACIFKNNELL KNIQDVQSQI
1460 1470 1480 1490 1500
SKIGLKDPTV PAVKHRKKSL IRLDKVLDEY EEEKRHLQEM ANSLPHFKDG
1510 1520 1530 1540 1550
REKTVNQQCQ NTVVLWENTK ALVTECLEQC GRVLELLKQY QNFKSILTTL
1560 1570 1580 1590 1600
IQKEESVISL QASYMGKENL KKRIAEIEIV KEEFNEHLEV VDKINQVCKN
1610 1620 1630 1640 1650
LQFYLNKMKT FEEPPFEKEA NIIVDRWLDI NEKTEDYYEN LGRALALWDK
1660 1670 1680 1690 1700
LFNLKNVIDE WTEKALQKME LHQLTEEDRE RLKEELQVHE QKTSEFSRRV
1710 1720 1730 1740 1750
AEIQFLLQSS EIPLELQVME SSILNKMEHV QKCLTGESNC HALSGSTAEL
1760 1770 1780 1790 1800
REDLDQAKTQ IGMTESLLKA LSPSDSLEIF TKLEEIQQQI LQQKHSMILL
1810 1820 1830 1840 1850
ENQIGCLTPE LSELKKQYES VSDLFNTKKS VLQDHFSKLL NDQCKNFNDW
1860 1870 1880 1890 1900
FSNIKVNLKE CFESSETKKS VEQKLQKLSD FLTLEGRNSK IKQVDSVLKH
1910 1920 1930 1940 1950
VKKHLPKAHV KELISWLVGQ EFELEKMESI CQARAKELED SLQQLLRLQD
1960 1970 1980 1990 2000
DHRNLRKWLT NQEEKWKGME EPGEKTELFC QALARKREQF ESVAQLNNSL
2010 2020 2030 2040 2050
KEYGFTEEEE IIMEATCLMD RYQTLLRQLS EIEEEDKLLP TEDQSFNDLA
2060 2070 2080 2090 2100
HDVIHWIKEI KESLMVLNSS EGKMPLEERI QKIKEIILLK PEGDARIETI
2110 2120 2130 2140 2150
MKQAESSEAP LVQKTLTDIS NQWDNTLHLA STYLSHQEKL LLEGEKYLQS
2160 2170 2180 2190 2200
KEDLRLMLIE LKKKQEAGFA LQHGLQEKKA QLKIYKKFLK KAQDLTSLLK
2210 2220 2230 2240 2250
ELKSQGNYLL ECTKNPSFSE EPWLEIKHLH ESLLQQLQDS VQNLDGHVRE
2260 2270 2280 2290 2300
HDSYQVCVTD LNTTLDNFSK EFVSFSDKPV DQIAVEEKLQ KLQELENRLS
2310 2320 2330 2340 2350
LQDGTLKKIL ALAKSVKQNT SSVGQKIIKD DIKSLQCKQK DLENRLASAK
2360 2370 2380 2390 2400
QEMECCLNSI LKSKRSTEKK GKFTLPGREK QATSDVQEST QESAAVEKLE
2410 2420 2430 2440 2450
EDWEINKDSA VEMAMSKQLS LNAQESMKNT EDERKVNELQ NQPLELDTML
2460 2470 2480 2490 2500
RNEQLEEIEK LYTQLEAKKA AIKPLEQTEC LNKTETGALV LHNIGYSAQH
2510 2520 2530 2540 2550
LDNLLQALIT LKKNKESQYC VLRDFQEYLA AVESSMKALL TDKESLKVGP
2560 2570 2580 2590 2600
LDSVTYLDKI KKFIASIEKE KDSLGNLKIK WENLSNHVTD MDKKLLESQI
2610 2620 2630 2640 2650
KQLEHGWEQV EQQIQKKYSQ QVVEYDEFTT LMNKVQDTEI SLQQQQQHLQ
2660 2670 2680 2690 2700
LRLKSPEERA GNQSMIALTT DLQATKHGFS VLKGQAELQM KRIWGEKEKK
2710 2720 2730 2740 2750
NLEDGINNLK KQWETLEPLH LEAENQIKKC DIRNKMKETI LWAKNLLGEL
2760 2770 2780 2790 2800
NPSIPLLPDD ILSQIRKCKV THDGILARQQ SVESLAEEVK DKVPSLTTYE
2810 2820 2830 2840 2850
GSDLNNTLED LRNQYQMLVL KSTQRSQQLE FKLEERSNFF AIIRKFQLMV
2860 2870 2880 2890 2900
QESETLIIPR VETAATEAEL KHHHVTLEAS QKELQEIDSG ISTHLQELTN
2910 2920 2930 2940 2950
IYEELNVFER LFLEDQLKNL KIRTNRIQRF IQNTCNEVEH KIKFCRQFHE
2960 2970 2980 2990 3000
KTSALQEEAD SIQRNELLLN QEVNKGVKEE IYNLKDRLTA IKCCILQVLK
3010 3020 3030 3040 3050
LKKVFDYIGL NWDFSQLDQL QTQVFEKEKE LEEKIKQLDT FEEEHGKYQA
3060 3070 3080 3090 3100
LLSKMRAIDL QIKKMTEVVL KAPDSSPESR RLNAQILSQR IEKAKCLCDE
3110 3120 3130 3140 3150
IIKKLNENKT FDDSFKEKEI LQIKLNAEEN DKLYKVLQNM VLELSPKELD
3160 3170 3180 3190 3200
EKNCQDKLET SLHVLNQIKS QLQQPLLINL EIKHIQNEKD NCEAFQEQVW
3210 3220 3230 3240 3250
AEMCSIKAVT AIEKQREENS SEASDVETKL REFEDLQMQL NTSIDLRTNV
3260 3270 3280 3290 3300
LNDAYENLTR YKEAVTRAVE SITSLEAIII PYRVDVGNPE ESLEMPLRKQ
3310 3320 3330 3340 3350
EELESTVAHI QDLTEKLGMI SSPEAKLQLQ YTLQELVSKN SAMKEAFKAQ
3360 3370 3380 3390 3400
ETEAERYLEN YKCYRKMEED IYTNLSKMET VLGQSMSSLP LSYREALERL
3410 3420 3430 3440 3450
EQSKALVSNL ISTKEELMKL RQILRLLRLR CTENDGICLL KIVSALWEKW
3460 3470 3480 3490 3500
LSLLEAAKEW EMWCEELKQE WKFVSEEIER EAIILDNLQE ELPEISKTKE
3510 3520 3530 3540 3550
AATTEELSEL LDCLCQYGEN VEKQQLLLTL LLQRIRSIQN VPESSGAVET
3560 3570 3580 3590 3600
VPAFQEITSM KERCNKLLQK VQKNKELVQT EIQERHSFTK EIIALKNFFQ
3610 3620 3630 3640 3650
QTTTSFQNMA FQDHPEKSEQ FEELQSILKK GKLTFENIME KLRIKYSEMY
3660 3670 3680 3690 3700
TIVPAEIESQ VEECRKALED IDEKISNEVL KSSPSYAMRR KIEEINNGLH
3710 3720 3730 3740 3750
NVEKMLQQKS KNIEKAQEIQ KKMWDELDLW HSKLNELDSE VQDIVEQDPG
3760 3770 3780 3790 3800
QAQEWMDNLM IPFQQYQQVS QRAECRTSQL NKATVKMEEY SDLLKSTEAW
3810 3820 3830 3840 3850
IENTSHLLAN PADYDSLRTL SHHASTVQMA LEDSEQKHNL LHSIFMDLED
3860 3870 3880 3890 3900
LSIIFETDEL TQSIQELSNQ VTALQQKIME SLPQIQRMAD DVVAIESEVK
3910 3920 3930 3940 3950
SMEKRVSKIK TILLSKEIFD FSPEEHLKHG EVILENIRPM KKTIAEIVSY
3960 3970 3980 3990 4000
QVELRLPQTG MKPLPVFQRT NQLLQDIKLL ENVTQEQNEL LKVVIKQTNE
4010 4020 4030 4040 4050
WDEEIENLKQ ILNNYSAQFS LEHMSPDQAD KLPQLQGEIE RMEKQILSLN
4060 4070 4080 4090 4100
QRKEDLLVDL KATVLNLHQH LKQEQEGVER DRLPAVTSEE GGVAERDASE
4110 4120 4130 4140 4150
RKLNRRGSMS YLAAVEEEVE ESSVKSDNGD EKAEPSPQSW SSLWKHDKDM
4160 4170 4180 4190 4200
EEDRASSSSG TIVQEAYGKI STSDNSMAQI LTPDSLNTEQ GPECSLRPNQ
4210 4220 4230 4240 4250
TEEGTTPPIE ADTLDSSDAQ GGLEPRVEKT RPEPTEVLHA CKTQVAELEL
4260 4270 4280 4290 4300
WLQQANVAVE PETLNADMQQ VLEQQLVGCQ AMLTEIEHKV AFLLETCKDQ
4310 4320 4330 4340 4350
GLGDNGATQH EAEALSLKLK TVKCNLEKVQ MMLQEKHSED QHPTILKKSS
4360 4370 4380 4390 4400
EPEHQEALQP VNLSELESIV TERPQFSRQK DFQQQQVLEL KPMEQKDFIK
4410 4420 4430 4440 4450
FIEFNAKKMW PQYCQHDNDT TQESSASNQA SSPENDVPDS ILSPQGQNGD
4460 4470 4480 4490 4500
KWQYLHHELS SKIKLPLPQL VEPQVSTNMG ILPSVTMYNF RYPTTEELKT
4510 4520 4530 4540 4550
YTTQLEDLRQ EASNLQTQEN MTEEAYINLD KKLFELFLTL SQCLSSVEEM
4560 4570 4580 4590 4600
LEMPRLYRED GSGQQVHYET LALELKKLYL ALSDKKGDLL KAMTWPGENT
4610 4620 4630 4640 4650
NLLLECFDNL QVCLEHTQAA AVCRSKSLKA GLDYNRSYQN EIKRLYHQLI
4660 4670 4680 4690 4700
KSKTSLQQSL NEISGQSVAE QLQKADAYTV ELENAESRVA KLRDEGERLH
4710 4720 4730 4740 4750
LPYALLQEVY KLEDVLDSMW GMLRARYTEL SSPFVTESQQ DALLQGMVEL
4760 4770 4780 4790 4800
VKIGKEKLAH GHLKQTKSKV ALQAQIENHK VFFQKLVADM LLIQAYSAKI
4810 4820 4830 4840 4850
LPSLLQNRET FWAEQVTEVK ILEEKSRQCG MKLQSLLQKW EEFDENYASL
4860 4870 4880 4890 4900
EKDLEILIST LPSVSLVEET EERLVERISF YQQIKRNIGG KHARLYQTLN
4910 4920 4930 4940 4950
EGKQLVASVS CPELEGQIAK LEEQWLSLNK KIDHELHRLQ ALLKHLLSYN
4960 4970 4980 4990 5000
RDSDQLTKWL ESSQHTLNYW KEQSLNVSQD LDTIRSNINN FFEFSKEVDE
5010 5020 5030 5040 5050
KSSLKTAVIS IGNQLLHLKE TDTATLRASL AQFEQKWTML ITQLPDIQEK
5060 5070 5080 5090 5100
LHQLQMEKLP SRKAITEMIS WMNNVEHQTS DEDSVHSPSS ASQVKHLLQK
5110 5120 5130 5140 5150
HKEFRMEMDY KQWIVDFVNQ SLLQLSTCDV ESKRYERTEF AEHLGEMNRQ
5160 5170 5180 5190 5200
WHRVHGMLNR KIQHLEQLLE SITESENKIQ ILNNWLEAQE ERLKTLQKPE
5210 5220 5230 5240 5250
SVISVQKLLL DCQDIENQLA IKSKALDELK QSYLTLESGA VPLLEDTASR
5260 5270 5280 5290 5300
IDELFQKRSS VLTQVNQLKT SMQSVLQEWK IYDQLYDEVN MMTIRFWYCM
5310 5320 5330 5340 5350
EHSKPVVLSL ETLRCQVENL QSLQDEAESS EGSWEKLQEV IGKLKGLCPS
5360 5370 5380 5390 5400
VAEIIEEKCQ NTHKRWTQVN QAIADQLQKA QSLLQLWKAY SNAHGEAAAR
5410 5420 5430 5440 5450
LKQQEAKFQQ LANISMSGNN LAEILPPALQ DIKELQHDVQ KTKEAFLQNS
5460 5470 5480 5490 5500
SVLDRLPQPA ESSTHMLLPG PLHSLQRAAY LEKMLLVKAN EFEFVLSQFK
5510 5520 5530 5540 5550
DFGVRLESLK GLIMHEEENL DRLHQQEKEN PDSFLNHVLA LTAQSPDIEH
5560 5570 5580 5590 5600
LNEVSLKLPL SDVAVKTLQN MNRQWIRATA TALERCSELQ GIGLNEKFLY
5610 5620 5630 5640 5650
CCEKWIQLLE KIEEALKVDV ANSLPELLEQ QKTYKMLEAE VSINQTIADS
5660 5670 5680 5690 5700
YVTQSLQLLD TTEIENRPEF ITEFSKLTDR WQNAVQGVRQ RKGDVDGLVR
5710 5720 5730 5740 5750
QWQDFTTSVE NLFRFLTDTS HLLSAVKGQE RFSLYQTRSL IHELKNKEIH
5760 5770 5780 5790 5800
FQRRRTTCAL TLEAGEKLLL TTDLKTKESV GRRISQLQDS WKDMEPQLAE
5810 5820 5830 5840 5850
MIKQFQSTVE TWDQCEKKIK ELKSRLQVLK AQSEDPLPEL HEDLHNEKEL
5860 5870 5880 5890 5900
IKELEQSLAS WTQNLKELQT MKADLTRHVL VEDVMVLKEQ IEHLHRQWED
5910 5920 5930 5940 5950
LCLRVAIRKQ EIEDRLNTWV VFNEKNKELC AWLVQMENKV LQTADISIEE
5960 5970 5980 5990 6000
MIEKLQKDCM EEINLFSENK LQLKQMGDQL IKASNKSRAA EIDDKLNKIN
6010 6020 6030 6040 6050
DRWQHLFDVI GSRVKKLKET FAFIQQLDKN MSNLRTWLAR IESELSKPVV
6060 6070 6080 6090 6100
YDVCDDQEIQ KRLAEQQDLQ RDIEQHSAGV ESVFNICDVL LHDSDACANE
6110 6120 6130 6140 6150
TECDSIQQTT RSLDRRWRNI CAMSMERRMK IEETWRLWQK FLDDYSRFED
6160 6170 6180 6190 6200
WLKSAERTAA CPNSSEVLYT SAKEELKRFE AFQRQIHERL TQLELINKQY
6210 6220 6230 6240 6250
RRLARENRTD TASRLKQMVH EGNQRWDNLQ RRVTAVLRRL RHFTNQREEF
6260 6270 6280 6290 6300
EGTRESILVW LTEMDLQLTN VEHFSESDAD DKMRQLNGFQ QEITLNTNKI
6310 6320 6330 6340 6350
DQLIVFGEQL IQKSEPLDAV LIEDELEELH RYCQEVFGRV SRFHRRLTSC
6360 6370 6380 6390 6400
TPGLEDEKEA SENETDMEDP REIQTDSWRK RGESEEPSSP QSLCHLVAPG
6410 6420 6430 6440 6450
HERSGCETPV SVDSIPLEWD HTGDVGGSSS HEEDEEGPYY SALSGKSISD
6460 6470 6480 6490 6500
GHSWHVPDSP SCPEHHYKQM EGDRNVPPVP PASSTPYKPP YGKLLLPPGT
6510 6520 6530 6540 6550
DGGKEGPRVL NGNPQQEDGG LAGITEQQSG AFDRWEMIQA QELHNKLKIK
6560 6570 6580 6590 6600
QNLQQLNSDI SAITTWLKKT EAELEMLKMA KPPSDIQEIE LRVKRLQEIL
6610 6620 6630 6640 6650
KAFDTYKALV VSVNVSSKEF LQTESPESTE LQSRLRQLSL LWEAAQGAVD
6660 6670 6680 6690 6700
SWRGGLRQSL MQCQDFHQLS QNLLLWLASA KNRRQKAHVT DPKADPRALL
6710 6720 6730 6740 6750
ECRRELMQLE KELVERQPQV DMLQEISNSL LIKGHGEDCI EAEEKVHVIE
6760 6770 6780 6790 6800
KKLKQLREQV SQDLMALQGT QNPASPLPSF DEVDSGDQPP ATSVPAPRAK
6810 6820 6830 6840 6850
QFRAVRTTEG EEETESRVPG STRPQRSFLS RVVRAALPLQ LLLLLLLLLA
6860 6870 6880
CLLPSSEEDY SCTQANNFAR SFYPMLRYTN GPPPT
Length:6,885
Mass (Da):796,442
Last modified:October 17, 2006 - v3
Checksum:i3D37E27B080ADBD8
GO
Isoform 2 (identifier: Q8WXH0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     6444-6444: S → SDVEIPENPEAYLKMTTKTLKASS
     6801-6801: Missing.

Note: No experimental confirmation available.
Show »
Length:6,907
Mass (Da):798,862
Checksum:i7E7F66AF95A99F70
GO
Isoform 3 (identifier: Q8WXH0-3) [UniParc]FASTAAdd to basket
Also known as: epsilon2, JAM19

The sequence of this isoform differs from the canonical sequence as follows:
     1-6030: Missing.

Note: Produced by exon skipping that results in a frameshift.
Show »
Length:855
Mass (Da):98,039
Checksum:i554952A1E70DF621
GO
Isoform 4 (identifier: Q8WXH0-4) [UniParc]FASTAAdd to basket
Also known as: beta1

The sequence of this isoform differs from the canonical sequence as follows:
     1-6122: Missing.

Show »
Length:763
Mass (Da):87,403
Checksum:iCAE53C333FE028A0
GO
Isoform 5 (identifier: Q8WXH0-5) [UniParc]FASTAAdd to basket
Also known as: alpha1

The sequence of this isoform differs from the canonical sequence as follows:
     1-6366: Missing.
     6444-6444: S → SDVEIPENPEAYLKMTTKTLKASS
     6664-6664: Q → QGSKTRPRSDVLFFK

Show »
Length:556
Mass (Da):62,199
Checksum:iFA2F772713B7A977
GO
Isoform 6 (identifier: Q8WXH0-6) [UniParc]FASTAAdd to basket
Also known as: alpha2

The sequence of this isoform differs from the canonical sequence as follows:
     1-6469: Missing.
     6664-6664: Q → QGSKTRPRSDVLFFK
     6801-6801: Missing.

Show »
Length:429
Mass (Da):48,159
Checksum:i8BF416B8EEA07C63
GO
Isoform 7 (identifier: Q8WXH0-7) [UniParc]FASTAAdd to basket
Also known as: Gamma

The sequence of this isoform differs from the canonical sequence as follows:
     1-3638: Missing.
     3828-3828: Q → QDSKCFRSGPRPNIYVSYYVTVIQ

Show »
Length:3,270
Mass (Da):377,193
Checksum:i5F53FE3B7E37EDAB
GO
Isoform 8 (identifier: Q8WXH0-8) [UniParc]FASTAAdd to basket
Also known as: p32CH

The sequence of this isoform differs from the canonical sequence as follows:
     263-285: DVDVVDPDEKSIMTYVAQFLQYS → DAWRSSALYRIYMPGTVSCASYL
     286-6885: Missing.

Note: Lacks the spectrin repeats and KASH domain.
Show »
Length:285
Mass (Da):32,239
Checksum:iA0DDB990EFD42352
GO
Isoform 9 (identifier: Q8WXH0-9) [UniParc]FASTAAdd to basket
Also known as: NUANCE-N-33

The sequence of this isoform differs from the canonical sequence as follows:
     263-267: DVDVV → AYKNF
     268-6885: Missing.

Show »
Length:267
Mass (Da):30,270
Checksum:i0683CC937EBD8A92
GO
Isoform 10 (identifier: Q8WXH0-10) [UniParc]FASTAAdd to basket
Also known as: beta2

The sequence of this isoform differs from the canonical sequence as follows:
     1-6217: Missing.
     6801-6801: Missing.

Show »
Length:667
Mass (Da):75,575
Checksum:i4360B8E87CBAF34F
GO
Isoform 11 (identifier: Q8WXH0-11) [UniParc]FASTAAdd to basket
Also known as: FLJ56122

The sequence of this isoform differs from the canonical sequence as follows:
     1-6434: Missing.
     6435-6443: EEGPYYSAL → MTTKTLKAS

Note: No experimental confirmation available.
Show »
Length:451
Mass (Da):50,514
Checksum:i9D3AC64C19981BBD
GO
Isoform 12 (identifier: Q8WXH0-12) [UniParc]FASTAAdd to basket
Also known as: FLJ55476

The sequence of this isoform differs from the canonical sequence as follows:
     1-6366: Missing.
     6444-6444: S → SDVEIPENPEAYLKMTTKTLKASS

Note: No experimental confirmation available.
Show »
Length:542
Mass (Da):60,579
Checksum:iF3CE2D7DEECD9E78
GO
Isoform 13 (identifier: Q8WXH0-13) [UniParc]FASTAAdd to basket
Also known as: epsilon1, JAM28

The sequence of this isoform differs from the canonical sequence as follows:
     1-5850: Missing.
     5851-5852: IK → MQ

Note: Detected only in ovary and early embryonic cells.1 Publication
Show »
Length:1,035
Mass (Da):119,457
Checksum:i42C2471BD215BB37
GO

Sequence cautioni

The sequence BAB84881 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAB45729 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB55905 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti668Missing (PubMed:12408964).Curated1
Sequence conflicti1087M → T (PubMed:12408964).Curated1
Sequence conflicti3115F → S in AAL33548 (PubMed:12118075).Curated1
Sequence conflicti3193E → G in AAL33548 (PubMed:12118075).Curated1
Sequence conflicti3951Q → L in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4001W → Q in AAN60443 (PubMed:12408964).Curated1
Sequence conflicti4158S → F in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4158S → F (PubMed:12408964).Curated1
Sequence conflicti4209I → T in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4209I → T (PubMed:12408964).Curated1
Sequence conflicti4327E → Q in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4327E → Q (PubMed:12408964).Curated1
Sequence conflicti4418N → K in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4418N → K (PubMed:12408964).Curated1
Sequence conflicti4713E → G in AAL33548 (PubMed:12118075).Curated1
Sequence conflicti4733P → S in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4733P → S (PubMed:12408964).Curated1
Sequence conflicti4807N → I in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4807N → I (PubMed:12408964).Curated1
Sequence conflicti4826S → P in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti4826S → P (PubMed:12408964).Curated1
Sequence conflicti5166E → D in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti5166E → D (PubMed:12408964).Curated1
Sequence conflicti5646T → A in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti5646T → A (PubMed:12408964).Curated1
Sequence conflicti5727K → R in AAL33802 (PubMed:11792814).Curated1
Sequence conflicti5727K → R (PubMed:12408964).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0279478P → S.Corresponds to variant rs2275017dbSNPEnsembl.1
Natural variantiVAR_050238432S → R.Corresponds to variant rs35554503dbSNPEnsembl.1
Natural variantiVAR_027948574I → T.Corresponds to variant rs9944035dbSNPEnsembl.1
Natural variantiVAR_0502391393R → W.Corresponds to variant rs17751301dbSNPEnsembl.1
Natural variantiVAR_0502401969M → T.1 PublicationCorresponds to variant rs4902264dbSNPEnsembl.1
Natural variantiVAR_0502412284A → V.1 PublicationCorresponds to variant rs4027402dbSNPEnsembl.1
Natural variantiVAR_0502422347A → E.Corresponds to variant rs34625768dbSNPEnsembl.1
Natural variantiVAR_0279492358N → S.Corresponds to variant rs4027404dbSNPEnsembl.1
Natural variantiVAR_0502432359S → G.Corresponds to variant rs7157465dbSNPEnsembl.1
Natural variantiVAR_0502442359S → N.1 PublicationCorresponds to variant rs4027404dbSNPEnsembl.1
Natural variantiVAR_0279502394A → T.Corresponds to variant rs4027405dbSNPEnsembl.1
Natural variantiVAR_0502452395A → T.1 PublicationCorresponds to variant rs4027405dbSNPEnsembl.1
Natural variantiVAR_0502462490V → G.Corresponds to variant rs34393543dbSNPEnsembl.1
Natural variantiVAR_0502472564I → V.Corresponds to variant rs11628107dbSNPEnsembl.1
Natural variantiVAR_0279512801G → S.Corresponds to variant rs1890908dbSNPEnsembl.1
Natural variantiVAR_0502482802S → G.1 PublicationCorresponds to variant rs1890908dbSNPEnsembl.1
Natural variantiVAR_0502492942I → V.1 PublicationCorresponds to variant rs3829767dbSNPEnsembl.1
Natural variantiVAR_0502503026E → D.Corresponds to variant rs34843668dbSNPEnsembl.1
Natural variantiVAR_0502513130N → S.Corresponds to variant rs11847087dbSNPEnsembl.1
Natural variantiVAR_0502523253D → H.1 PublicationCorresponds to variant rs8010911dbSNPEnsembl.1
Natural variantiVAR_0502533309H → R.1 PublicationCorresponds to variant rs8010699dbSNPEnsembl.1
Natural variantiVAR_0502543523K → Q.Corresponds to variant rs35203186dbSNPEnsembl.1
Natural variantiVAR_0502553982N → H.Corresponds to variant rs10137972dbSNPEnsembl.1
Natural variantiVAR_0502564041R → H.Corresponds to variant rs17101661dbSNPEnsembl.1
Natural variantiVAR_0502574912P → A.Corresponds to variant rs17766354dbSNPEnsembl.1
Natural variantiVAR_0502584913E → K.Corresponds to variant rs12881815dbSNPEnsembl.1
Natural variantiVAR_0502595086H → Y.Corresponds to variant rs2039475dbSNPEnsembl.1
Natural variantiVAR_0502605186L → M.2 PublicationsCorresponds to variant rs10151658dbSNPEnsembl.1
Natural variantiVAR_0502615547D → N.Corresponds to variant rs17179194dbSNPEnsembl.1
Natural variantiVAR_0362555940V → I in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0502626155A → V.Corresponds to variant rs2275014dbSNPEnsembl.1
Natural variantiVAR_0362566200Y → C in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0629776211T → M in EDMD5. 1 PublicationCorresponds to variant rs36215895dbSNPEnsembl.1
Natural variantiVAR_0502636681K → E.Corresponds to variant rs35315070dbSNPEnsembl.1
Natural variantiVAR_0502646697R → W.Corresponds to variant rs35700578dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0071581 – 6469Missing in isoform 6. 2 PublicationsAdd BLAST6469
Alternative sequenceiVSP_0574831 – 6434Missing in isoform 11. 1 PublicationAdd BLAST6434
Alternative sequenceiVSP_0071571 – 6366Missing in isoform 5 and isoform 12. 2 PublicationsAdd BLAST6366
Alternative sequenceiVSP_0574841 – 6217Missing in isoform 10. 1 PublicationAdd BLAST6217
Alternative sequenceiVSP_0071561 – 6122Missing in isoform 4. 1 PublicationAdd BLAST6122
Alternative sequenceiVSP_0071551 – 6030Missing in isoform 3. 1 PublicationAdd BLAST6030
Alternative sequenceiVSP_0574851 – 5850Missing in isoform 13. 1 PublicationAdd BLAST5850
Alternative sequenceiVSP_0071541 – 3638Missing in isoform 7. 1 PublicationAdd BLAST3638
Alternative sequenceiVSP_007161263 – 285DVDVV…FLQYS → DAWRSSALYRIYMPGTVSCA SYL in isoform 8. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_007159263 – 267DVDVV → AYKNF in isoform 9. 1 Publication5
Alternative sequenceiVSP_007160268 – 6885Missing in isoform 9. 1 PublicationAdd BLAST6618
Alternative sequenceiVSP_007162286 – 6885Missing in isoform 8. 1 PublicationAdd BLAST6600
Alternative sequenceiVSP_0071633828Q → QDSKCFRSGPRPNIYVSYYV TVIQ in isoform 7. 1 Publication1
Alternative sequenceiVSP_0574865851 – 5852IK → MQ in isoform 13. 1 Publication2
Alternative sequenceiVSP_0574876435 – 6443EEGPYYSAL → MTTKTLKAS in isoform 11. 1 Publication9
Alternative sequenceiVSP_0071646444S → SDVEIPENPEAYLKMTTKTL KASS in isoform 2, isoform 5 and isoform 12. 3 Publications1
Alternative sequenceiVSP_0071656664Q → QGSKTRPRSDVLFFK in isoform 5 and isoform 6. 2 Publications1
Alternative sequenceiVSP_0071666801Missing in isoform 2, isoform 6 and isoform 10. 3 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF435010 mRNA. Translation: AAL33547.1.
AF435011 mRNA. Translation: AAL33548.1.
AY061757 mRNA. Translation: AAL33800.1.
AY061758 mRNA. Translation: AAL33801.1.
AY061759 mRNA. Translation: AAL33802.1.
AY184204 mRNA. Translation: AAO27772.1.
AY184205 mRNA. Translation: AAO27773.1.
AF495911 mRNA. Translation: AAN60443.1.
JQ754367 mRNA. Translation: AFN44385.1.
AL117404 mRNA. Translation: CAB55905.2. Different initiation.
AK074055 mRNA. Translation: BAB84881.1. Different initiation.
AK090430 mRNA. Translation: BAC03411.1.
AK095241 mRNA. Translation: BAC04506.1.
AK297874 mRNA. Translation: BAG60199.1.
AK298465 mRNA. Translation: BAG60678.1.
AL162832 Genomic DNA. No translation available.
AL355094 Genomic DNA. No translation available.
AL359235 Genomic DNA. No translation available.
BC042134 mRNA. Translation: AAH42134.1.
BC071873 mRNA. Translation: AAH71873.1.
BM805144 mRNA. No translation available.
CD654909 mRNA. No translation available.
AB023228 mRNA. Translation: BAA76855.3.
AL080133 mRNA. Translation: CAB45729.1. Different initiation.
CCDSiCCDS41963.1. [Q8WXH0-1]
CCDS45124.1. [Q8WXH0-5]
CCDS45125.1. [Q8WXH0-6]
CCDS9761.2. [Q8WXH0-2]
PIRiT12520.
T17215.
RefSeqiNP_055995.4. NM_015180.4. [Q8WXH0-1]
NP_878914.1. NM_182910.2. [Q8WXH0-6]
NP_878917.1. NM_182913.2. [Q8WXH0-5]
NP_878918.2. NM_182914.2. [Q8WXH0-2]
UniGeneiHs.745014.

Genome annotation databases

EnsembliENST00000341472; ENSP00000344528; ENSG00000054654. [Q8WXH0-8]
ENST00000344113; ENSP00000341781; ENSG00000054654. [Q8WXH0-1]
ENST00000358025; ENSP00000350719; ENSG00000054654. [Q8WXH0-2]
ENST00000394768; ENSP00000378249; ENSG00000054654. [Q8WXH0-7]
ENST00000441438; ENSP00000396794; ENSG00000054654. [Q8WXH0-6]
ENST00000458046; ENSP00000391937; ENSG00000054654. [Q8WXH0-5]
ENST00000555022; ENSP00000451009; ENSG00000054654. [Q8WXH0-4]
GeneIDi23224.
KEGGihsa:23224.
UCSCiuc001xgk.4. human. [Q8WXH0-1]
uc001xgr.5. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF435010 mRNA. Translation: AAL33547.1.
AF435011 mRNA. Translation: AAL33548.1.
AY061757 mRNA. Translation: AAL33800.1.
AY061758 mRNA. Translation: AAL33801.1.
AY061759 mRNA. Translation: AAL33802.1.
AY184204 mRNA. Translation: AAO27772.1.
AY184205 mRNA. Translation: AAO27773.1.
AF495911 mRNA. Translation: AAN60443.1.
JQ754367 mRNA. Translation: AFN44385.1.
AL117404 mRNA. Translation: CAB55905.2. Different initiation.
AK074055 mRNA. Translation: BAB84881.1. Different initiation.
AK090430 mRNA. Translation: BAC03411.1.
AK095241 mRNA. Translation: BAC04506.1.
AK297874 mRNA. Translation: BAG60199.1.
AK298465 mRNA. Translation: BAG60678.1.
AL162832 Genomic DNA. No translation available.
AL355094 Genomic DNA. No translation available.
AL359235 Genomic DNA. No translation available.
BC042134 mRNA. Translation: AAH42134.1.
BC071873 mRNA. Translation: AAH71873.1.
BM805144 mRNA. No translation available.
CD654909 mRNA. No translation available.
AB023228 mRNA. Translation: BAA76855.3.
AL080133 mRNA. Translation: CAB45729.1. Different initiation.
CCDSiCCDS41963.1. [Q8WXH0-1]
CCDS45124.1. [Q8WXH0-5]
CCDS45125.1. [Q8WXH0-6]
CCDS9761.2. [Q8WXH0-2]
PIRiT12520.
T17215.
RefSeqiNP_055995.4. NM_015180.4. [Q8WXH0-1]
NP_878914.1. NM_182910.2. [Q8WXH0-6]
NP_878917.1. NM_182913.2. [Q8WXH0-5]
NP_878918.2. NM_182914.2. [Q8WXH0-2]
UniGeneiHs.745014.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4DXSX-ray2.71B6857-6885[»]
4FI9X-ray3.05B6872-6885[»]
ProteinModelPortaliQ8WXH0.
SMRiQ8WXH0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116830. 39 interactors.
DIPiDIP-53409N.
IntActiQ8WXH0. 28 interactors.
MINTiMINT-4136337.
STRINGi9606.ENSP00000350719.

PTM databases

iPTMnetiQ8WXH0.
PhosphoSitePlusiQ8WXH0.
SwissPalmiQ8WXH0.

Polymorphism and mutation databases

BioMutaiSYNE2.
DMDMi116242809.

Proteomic databases

EPDiQ8WXH0.
MaxQBiQ8WXH0.
PaxDbiQ8WXH0.
PeptideAtlasiQ8WXH0.
PRIDEiQ8WXH0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341472; ENSP00000344528; ENSG00000054654. [Q8WXH0-8]
ENST00000344113; ENSP00000341781; ENSG00000054654. [Q8WXH0-1]
ENST00000358025; ENSP00000350719; ENSG00000054654. [Q8WXH0-2]
ENST00000394768; ENSP00000378249; ENSG00000054654. [Q8WXH0-7]
ENST00000441438; ENSP00000396794; ENSG00000054654. [Q8WXH0-6]
ENST00000458046; ENSP00000391937; ENSG00000054654. [Q8WXH0-5]
ENST00000555022; ENSP00000451009; ENSG00000054654. [Q8WXH0-4]
GeneIDi23224.
KEGGihsa:23224.
UCSCiuc001xgk.4. human. [Q8WXH0-1]
uc001xgr.5. human.

Organism-specific databases

CTDi23224.
DisGeNETi23224.
GeneCardsiSYNE2.
HGNCiHGNC:17084. SYNE2.
HPAiHPA003435.
HPA050204.
MalaCardsiSYNE2.
MIMi608442. gene.
612999. phenotype.
neXtProtiNX_Q8WXH0.
OpenTargetsiENSG00000054654.
Orphaneti98853. Autosomal dominant Emery-Dreifuss muscular dystrophy.
PharmGKBiPA128394613.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0516. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000118813.
InParanoidiQ8WXH0.
KOiK19346.
OMAiMMLQEKY.
OrthoDBiEOG091G0007.
PhylomeDBiQ8WXH0.
TreeFamiTF329280.

Enzyme and pathway databases

ReactomeiR-HSA-1221632. Meiotic synapsis.

Miscellaneous databases

ChiTaRSiSYNE2. human.
GeneWikiiSYNE2.
GenomeRNAii23224.
PROiQ8WXH0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000054654.
ExpressionAtlasiQ8WXH0. baseline and differential.
GenevisibleiQ8WXH0. HS.

Family and domain databases

CDDicd00014. CH. 2 hits.
Gene3Di1.10.418.10. 2 hits.
InterProiIPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR012315. KASH.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
IPR030266. SYNE2.
[Graphical view]
PANTHERiPTHR11915:SF317. PTHR11915:SF317. 10 hits.
PfamiPF00307. CH. 2 hits.
PF10541. KASH. 1 hit.
PF00435. Spectrin. 3 hits.
[Graphical view]
SMARTiSM00033. CH. 2 hits.
SM01249. KASH. 1 hit.
SM00150. SPEC. 18 hits.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 2 hits.
PROSITEiPS00019. ACTININ_1. 1 hit.
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 2 hits.
PS51049. KASH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSYNE2_HUMAN
AccessioniPrimary (citable) accession number: Q8WXH0
Secondary accession number(s): B4DND7
, B4DPR6, I6XXQ5, Q540G1, Q86YP9, Q8N1S3, Q8NF49, Q8TER7, Q8WWW3, Q8WWW4, Q8WWW5, Q8WXH1, Q9NU50, Q9UFQ4, Q9Y2L4, Q9Y4R1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 11, 2003
Last sequence update: October 17, 2006
Last modified: November 30, 2016
This is version 160 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.